المؤلفون: Angus-Leppan, Heather^{Aff1, Aff4, Aff7, IDs00415024124368_cor1}, Arkell, Rachel^{Aff1, Aff2, Aff8}, Watkins, Lance^{Aff3, Aff9}, Heaney, Dominic, Cooper, Paul^{Aff5, Aff10}, Shankar, Rohit^{Aff6, Aff9}

المصدر: Journal of Neurology. :1-16

المؤلفون: Corradetti, Bruna^{Aff1, Aff2, IDs4077802400233y_cor1}, Taraballi, Francesca^{Aff3, Aff4, Aff5}, Finnell, Richard H.^{Aff1, Aff2, Aff6}

المصدر: Current Stem Cell Reports. 10(2):20-29

المؤلفون: Yefet, E.^{Aff1, Aff2, Aff3}, Jeda, E., Yossef, A., Massalha, M.^{Aff4, Aff5, IDs40618023022386_cor4}, Tzur, A., Nachum, Z.^{Aff4, Aff5}

المصدر: Journal of Endocrinological Investigation: Official Journal of Italian Society of Endocrinology (SIE). 47(5):1181-1190

المؤلفون: Fichera, Giulia, Cavaliere, Annachiara, Causin, Francesco, Zuliani, Monica, Bisogno, Gianni, Rea, Federico, Stramare, Roberto, Giraudo, Chiara^{Aff3, Aff4, IDs40336024006325_cor8}

المصدر: Clinical and Translational Imaging: Official Journal of the Italian Association of Nuclear Medicine and Molecular Imaging . :1-10

المؤلفون: Dillenburg, G.^{Aff1, Aff3}, Pic-Taylor, A., Klaczko, J.^{Aff1, Aff2, IDs00435023006218_cor3}

المصدر: Zoomorphology: Evolutionary, Comparative and Functional Morphology. 143(1):5-11

المؤلفون: Reusken, Chantal B. E. M.^Aff4, Rockx, Barry^{Aff5, Aff6}, Eckerle, Isabella^Aff7

المساهمون: Leblebicioglu, Hakan, editor^Aff1, Beeching, Nick, editor^Aff2, Petersen, Eskild, editor^Aff3

المصدر: Emerging and Re-emerging Infections in Travellers. :225-257

المؤلفون: Nartova, A.A., Oppedizano, M.D.L., Chepelev, A.S., Galichina, V.A., Timofeev, E.V.

المصدر: Juvenis Scientia, Vol 10, Iss 1, Pp 43-50 (2024)

مصطلحات موضوعية: bronchogenic cyst, bronchial cyst, congenital malformations, histological examination, newborns, Science, Medicine, History of scholarship and learning. The humanities, AZ20-999

وصف الملف: electronic resource

Relation: https://jscientia.org/index.php/js/user/setLocale/en_US?source=/index.php/js/article/view/228?utm_source=doi; https://doaj.org/toc/2414-3782; https://doaj.org/toc/2414-3790

URL الوصول: https://doaj.org/article/78cb2780602f433f8b0794dafcb1bd0b

المؤلفون: Porto MB, Castro GDME, Pereira SSS, Uchoa EMGS, Zatarin R, Minasi LB, da Cruz AD

المصدر: International Medical Case Reports Journal, Vol Volume 17, Pp 63-70 (2024)

مصطلحات موضوعية: syt1, hypotonia, congenital malformations, ndd, wes, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.dovepress.com/c1103tc-pile368th-de-novo-variant-in-synaptotagmin-1-syt1-gene-is-path-peer-reviewed-fulltext-article-IMCRJ; https://doaj.org/toc/1179-142X

URL الوصول: https://doaj.org/article/2915fa69a4d84a729f58875ced0fb0ec

المؤلفون: Serra Juhé, Clara

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

مرشدي الرسالة: Pérez Jurado, Luis Alberto

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Malformacions congènites, Malformacions cardíaques congènites, Epigenètica, Variacions en número de còpia (CNV), Mutacions puntuals, Assessorament genètic, Análisis cromosòmica en micromatrius, Seqüenciació d’exoma, Metilació del DNA, Congenital malformations, Congenital heart defects, Epigenetics, Copy number variation (CNV), Point mutations, Genetic counseling, Chromosomal microarray analysis, Exome sequencing, DNA methylation

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/96194

المؤلفون: Maria Eduarda Turczyn De Lucca, Leonardo Cesar Ferreira Antunes, Jhulia Farinha Maffini, Guilherme dos Santos de Alencar, Sue Hellen de Oliveira Munhos, Rodrigo Leite de Morais, Carlos Eliseu Barcelos, Rosângela Stadnick Lauth de Almeida Torres

المصدر: Brazilian Neurosurgery, Vol 43, Iss 02, Pp e131-e137 (2024)

مصطلحات موضوعية: nasal glioma, congenital malformations, endoscopic resection, respiratory stress, bone deformities, glioma nasal, malformações congênitas, ressecção endoscópica, estresse respiratório, deformidades ósseas, Medicine, Surgery, RD1-811

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0103-5355; https://doaj.org/toc/2359-5922

URL الوصول: https://doaj.org/article/711469f55709488696fd2b12bbcfd2fa